Metadata | |
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ID | DOID:0111229 |
Name | congenital muscular dystrophy-dystroglycanopathy type A |
Definition | A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. https://www.ncbi.nlm.nih.gov/pubmed/23453667 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
congenital muscular alpha-dystroglycanopathy with brain and eye anomalies [EXACT] klissencephaly type 2 with muscular and ocular involvement [EXACT] MDDGA [EXACT] |
Parent Relationships |